A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17491



Internal ID15498276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144337923..144338614hg38UCSC Ensembl
Outerchr7:144337401..144339025hg38UCSC Ensembl
Innerchr7:144035016..144035707hg19UCSC Ensembl
Outerchr7:144034494..144036118hg19UCSC Ensembl
Innerchr7:143665949..143666640hg18UCSC Ensembl
Outerchr7:143665427..143667051hg18UCSC Ensembl
Innerchr7:143472664..143473355hg17UCSC Ensembl
Outerchr7:143472142..143473766hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381625
hg191625
hg181625
hg171625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA19240
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv17491
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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